List of variants reported as pathogenic for Osteopathia striata with cranial sclerosis by OMIM

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NC_000023.11:g.(57537466_63428182)_(65235775_65512709)del
NM_152424.4(AMER1):c.1057C>T (p.Arg353Ter)	rs137852216
NM_152424.4(AMER1):c.1072C>T (p.Arg358Ter)	rs137852217
NM_152424.4(AMER1):c.1267del (p.Leu423fs)	rs398122877
NM_152424.4(AMER1):c.429T>A (p.Cys143Ter)	rs387906722
NM_152424.4(AMER1):c.671del (p.Pro224fs)	rs1569192315
NM_152424.4(AMER1):c.780dup (p.Pro261fs)	rs1569192251
NM_152424.4(AMER1):c.811C>T (p.Gln271Ter)	rs387907269

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